The AFF2 Polyclonal Antibody (PACO18526) is a valuable tool for researchers studying AFF2, a protein involved in gene regulation and neurological development. This antibody, produced in rabbits, is highly specific for human samples and has been validated for use in Western blot applications. By binding to the AFF2 protein, this antibody allows for the detection and analysis of AFF2 expression in a variety of cell types, making it ideal for studies in neuroscience and developmental biology.AFF2, also known as FMR2, plays a crucial role in chromatin remodeling and transcriptional regulation, impacting processes such as neuronal differentiation and synaptic plasticity.
Dysregulation of AFF2 has been linked to neurodevelopmental disorders and intellectual disabilities, highlighting the importance of studying this protein in various biological contexts. Understanding the function of AFF2 can provide valuable insights into the molecular mechanisms underlying these conditions and may lead to the development of targeted therapies in the future.
The image on the left is immunohistochemistry of paraffin-embedded Human thyroid cancer tissue using PACO18526(AFF2 Antibody) at dilution 1/25, on the right is treated with synthetic peptide. (Original magnification: x200).
Gel: 8%SDS-PAGE, Lysate: 40 μg, Lane: Human fetal lung tissue, Primary antibody: PACO18526(AFF2 Antibody) at dilution 1/400, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 1 minute.
The image on the left is immunohistochemistry of paraffin-embedded Human liver cancer tissue using PACO18526(AFF2 Antibody) at dilution 1/25, on the right is treated with synthetic peptide. (Original magnification: x200).
Background:
This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.
Synonyms:
AF4/FMR2 family, member 2
UniProt Protein Function:
AFF2: RNA-binding protein. Might be involved in alternative splicing regulation through an interaction with G-quartet RNA structure. Defects in AFF2 are the cause of mental retardation X- linked associated with fragile site FRAXE (MRFRAXE). A form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior. It is associated with a fragile site on chromosome Xq28. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Caused either by silencing of the AFF2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene. Loss of AFF2 expression is correlated with FRAXE CCG(N) expansion. Normal individuals have 6-35 copies of the repeat, whereas cytogenetically positive, developmentally delayed males have more than 200 copies and show methylation of the associated CPG island. Belongs to the AF4 family. 7 isoforms of the human protein are produced by alternative splicing.Protein type: DNA-bindingChromosomal Location of Human Ortholog: Xq28Cellular Component: nuclear speckBiological Process: brain development; regulation of RNA splicingDisease: Mental Retardation, X-linked, Associated With Fragile Site Fraxe
UniProt Protein Details:
NCBI Summary:
This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]